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Both patients had distinctive craniofacial features including cranium bifidum occultum, hypertelorism, epicanthus inversus, capillary hemangiomata, and malformed ears. Musculoskeletal examination revealed rhizomelic shortness with normal hands and feet. Skeletal survey showed bilateral HRS with no evidence of craniosynostosis. The craniofacial manifestations in these two patients do not match any of the syndromes known to be associated with HRS. We consider that the constellation is unique and apparently represents a previously unrecognized syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31612","type":"journal-article","created":{"date-parts":[[2007,2,15]],"date-time":"2007-02-15T19:24:01Z","timestamp":1171567441000},"page":"521-527","source":"Crossref","is-referenced-by-count":7,"title":["Craniofacial anomalies, humero\u2010radial synostosis, rhizomelic limb shortness: Previously unrecognized autosomal recessive syndrome"],"prefix":"10.1002","volume":"143A","author":[{"given":"Zuhair N.","family":"Al\u2010Hassnan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,22]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"277","article-title":"Acrocephalo\u2010synankie, 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